List of variants in gene PPFIA3 reported as likely pathogenic by GeneDx

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_003660.4(PPFIA3):c.1638G>T (p.Trp546Cys)	rs2513971056
NM_003660.4(PPFIA3):c.2374del (p.Thr792fs)
NM_003660.4(PPFIA3):c.241-1G>A
NM_003660.4(PPFIA3):c.2609T>A (p.Ile870Asn)	rs2513986047

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